Q14K (p.Gln14Lys) variant of CLCN5 (P51795)
Q14K (p.Gln14Lys) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q14K (p.Gln14Lys) variant details
- p.Gln14Lys
- gnomAD X-50042339-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.21
- MetaLR 0.49
- MetaSVM -0.39
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available